[Morphologic and tomodensitometric comparative analysis of two cyclotocephalic newborns]

Area of Science:

• Developmental biology
• Medical imaging
• Clinical morphology

Background:

• Cyclocephaly is a rare congenital anomaly characterized by a single eye orbit and a proboscis.
• Holoprosencephaly is a spectrum of brain malformations resulting from incomplete forebrain division.

Purpose of the Study:

• To conduct a comparative morphologic analysis of two cyclocephalic newborn specimens.
• To investigate the relationship between craniofacial features and brain development in cyclocephaly.

Main Methods:

• External examination of two museum specimens.
• Computed Tomography (CT) scan for internal morphologic analysis.

Main Results:

• Both specimens exhibited similar external craniofacial features characteristic of cyclocephaly.
• One specimen presented a quasi-normal brain structure.
• The second specimen displayed alobar holoprosencephaly, a severe brain malformation.

Conclusions:

• The presence of alobar holoprosencephaly in a cyclocephalic newborn with similar craniofacial features to a non-affected individual is noteworthy.
• This finding prompts further investigation into the developmental genetics underlying cyclocephaly and holoprosencephaly spectrum disorders.